title: Microphthalmia with linear skin defects: a case report and review.
abstract: Microphthalmia with linear skin defects syndrome is an X-linked dominant disorder characterized by microphthalmia and other ocular anomalies as well as linear, jagged skin defects typically involving the scalp, face, neck, and upper trunk. Other associated characteristics include short stature, developmental delay, congenital heart defects, diaphragmatic hernia, agenesis of the corpus callosum, anencephaly, hydrocephalus, and seizures. Microphthalmia with linear skin defects syndrome is now known to be associated with a deletion of the X chromosome at Xp22. This is an area that has been found to include the HCCS gene, which encodes a holocytochrome c-type synthase believed to be critical in the regulation of apoptosis. We present a patient with classic clinical and genetic findings of MLS syndrome and discuss the primary characteristics and management of this disorder.
authors.affiliation: Department of Medicine, Section of Dermatology, University of Chicago, Chicago, Illinois, USA. Vishakha.sharma@uchospitals.edu
authors.forename: Vishakha M
authors.initials: VM
authors.lastname: Sharma
authors.forename: Arlene M
authors.initials: AM
authors.lastname: Ruiz de Luzuriaga
authors.forename: Darrel
authors.initials: D
authors.lastname: Waggoner
authors.forename: Mark
authors.initials: M
authors.lastname: Greenwald
authors.forename: Sarah L
authors.initials: SL
authors.lastname: Stein
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D041321:Chromosomes, Human, X; D005260:Female; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics / Q000473:pathology*; D008850:Microphthalmos / Q000235:genetics / Q000473:pathology*; D012868:Skin Abnormalities / Q000235:genetics / Q000473:pathology*; D013577:Syndrome